I. Scala

发表

The contribution of the citrate pathway to oxidative stress in Down syndrome

P. Convertini, A. Menga, G. Andria, 2016, Immunology.

Eukaryotic Initiation Factor 4H Is under Transcriptional Control of p65/NF-κB

A. Rossi, C. Palmieri, I. Scala, 2013, PloS one.

Tools and Technologies Cancer-Associated CD 43 Glycoforms as Target of Immunotherapy

F. D'armiento, D. Venzon, F. Buonaguro, 2014 .

Accumulation of altered aspartyl residues in erythrocyte proteins from patients with Down's syndrome

V. Zappia, G. Andria, I. Scala, 2007, The FEBS journal.

FKBP51 increases the tumour-promoter potential of TGF-beta

S. Staibano, M. Scalvenzi, A. Brunetti, 2014, Clinical and Translational Medicine.

Genetic Risk Factors for Neural Tube Defects: Folic Acid Supplementation and Prevention of Birth Defects

G. Andria, I. Scala, Iris Scala, 2006 .

Epigallocatechin-3-Gallate Plus Omega-3 Restores the Mitochondrial Complex I and F0F1-ATP Synthase Activities in PBMCs of Young Children with Down Syndrome: A Pilot Study of Safety and Efficacy

D. Valenti, R. A. Vacca, I. Scala, 2021, Antioxidants.

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

N. Brunetti‐Pierri, M. Pinelli, I. Scala, 2022, American journal of medical genetics. Part A.

Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study

I. Scala, B. Corrado, Gianluca Ciardi, 2022, Minerva Pediatrics.

Optical Coherence Tomography Angiography in patients with Neurofibromatosis type 1: a quantitative vascular prospective study

I. Scala, G. Cennamo, D. Montorio, 2021, Acta ophthalmologica.

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

I. Scala, P. Strisciuglio, M. P. Riccio, 2021, Italian Journal of Pediatrics.

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria

S. Sestito, I. Scala, G. Parenti, 2021, Nutrients.

Aberrant Glycosylation as Biomarker for Cancer: Focus on CD43

P. Tassone, F. Buonaguro, C. Palmieri, 2014, BioMed research international.

Epigallocatechin-3-gallate prevents oxidative phosphorylation deficit and promotes mitochondrial biogenesis in human cells from subjects with Down's syndrome.

Domenico de Rasmo, A. Signorile, S. Papa, 2013, Biochimica et biophysica acta.

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome.

G. Andria, I. Scala, V. Iacobazzi, 2011, Molecular genetics and metabolism.

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

S. Vollset, E. Bermejo, S. Bianca, 2003, Journal of medical genetics.

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations

X. Estivill, P. Talmud, D. Labuda, 2007, Journal of Medical Genetics.

Distribution and age of onset of psychopathological risk in a cohort of children with Down syndrome in developmental age

I. Scala, P. Strisciuglio, C. Bravaccio, 2019, Italian Journal of Pediatrics.

Prospective evaluation of autoimmune and non-autoimmune subclinical hypothyroidism in Down syndrome children.

A. Alibrandi, G. Pajno, I. Scala, 2020, European journal of endocrinology.

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

A. Valentino, R. A. Vacca, G. Andria, 2013, BMC Medical Genomics.

Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring

P. Mastroiacovo, G. Andria, I. Scala, 2006, Genetics in Medicine.

Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry

M. C. Savanelli, M. T. Pellecchia, G. Argenziano, 2021, Journal of public health.

Feasibility of prenatal diagnosis of lysinuric protein intolerance by linkage analysis: a case report

M. P. Sperandeo, J. Mykkänen, G. Andria, 1999, Prenatal Diagnosis.

Cancer-Associated CD43 Glycoforms as Target of Immunotherapy

F. D'armiento, D. Venzon, F. Buonaguro, 2013, Molecular Cancer Therapeutics.

Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria

I. Scala, G. Parenti, P. Strisciuglio, 2020, Nutrients.

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

B. Capaldo, G. Andria, I. Scala, 2015, Orphanet Journal of Rare Diseases.

New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia.

G. Andria, I. Scala, M. Lecora, 2000, American journal of medical genetics.

Health implications of homocysteine and folates: possible preventive measures.

G. Andria, I. Scala, G. Sebastio, 2005, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Universal screening for inherited metabolic diseases in the neonate (and the fetus)

G. Andria, I. Scala, G. Parenti, 2012, Journal of Maternal-Fetal & Neonatal Medicine.

Homocysteine Lowering by Folate-Rich Diet or Pharmacological Supplementations in Subjects with Moderate Hyperhomocysteinemia

L. Iacoviello, E. Carnovale, P. Mastroiacovo, 2013, Nutrients.

How many loci for the His475Tyr polymorphism of the glutamate carboxypeptidase II gene?

M. P. Sperandeo, G. Andria, I. Scala, 2003, American journal of medical genetics. Part A.

Linguistic adaptation and psychometric evaluation of Italian version of children’s sleep habits questionnaire

D. Bruzzese, E. Cantone, I. Scala, 2021, Italian Journal of Pediatrics.

Response to “Folate Gene Polymorphisms and the Risk of Down Syndrome Pregnancies in Young Italian Women” by Coppedè et al. [2006]

P. Mastroiacovo, G. Andria, I. Scala, 2007 .

Serious Games in the new era of digital-health interventions: A narrative review of their therapeutic applications to manage neurobehavior in neurodevelopmental disorders

A. Turchetta, M. Murero, F. Marzano, 2023, Neuroscience & Biobehavioral Reviews.

Functional and structural characterization of novel mutations and genotype–phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy

A. Zagari, L. Esposito, F. Salvatore, 2009, The FEBS journal.

B-cell receptor-guided delivery of peptide-siRNA complex for B-cell lymphoma therapy

P. Arcari, C. Palmieri, I. Scala, 2015, Cancer Cell International.

Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly

A. Verloes, E. Scarpato, G. Andria, 2010, American journal of medical genetics. Part A.

Obstructive Sleep Apnoea in Children with Down Syndrome: A Multidisciplinary Approach

D. Bruzzese, R. Rongo, E. Cantone, 2022, Journal of personalized medicine.